Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell K(ATP) channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these genes is problematic, because they can be either dom...

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Publicat a:Am J Med Genet A
Autors principals: Boodhansingh, Kara E., Kandasamy, Balamurugan, Mitteer, Lauren, Givler, Stephanie, De Leon, Diva D., Shyng, Show‐Ling, Ganguly, Arupa, Stanley, Charles A.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2019
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852436/
https://ncbi.nlm.nih.gov/pubmed/31464105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61335
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